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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Schneeberger PE, et al. Among authors: heller c. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. Brain. 2020. PMID: 32761064 Free PMC article.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: heller c. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn MF, Heller C, Zengeler D, Obermaier CD, Biskup S, Weis J, Nikolin S, Claeys KG, Schöne U, Beijer D, Winter N, Achenbach P, Gess B, Schulz JB, Mulahasanovic L. Dohrn MF, et al. Among authors: heller c. Neurol Res Pract. 2022 Feb 1;4(1):5. doi: 10.1186/s42466-022-00169-w. Neurol Res Pract. 2022. PMID: 35101151 Free PMC article.
Risk stratification after acute myocardial infarction.
Bigger JT, Heller CA, Wenger TL, Weld FM. Bigger JT, et al. Among authors: heller ca. Am J Cardiol. 1978 Aug;42(2):202-10. doi: 10.1016/0002-9149(78)90901-3. Am J Cardiol. 1978. PMID: 150785
Challenges in IBD Research 2024: Precision Medicine.
Syed S, Boland BS, Bourke LT, Chen LA, Churchill L, Dobes A, Greene A, Heller C, Jayson C, Kostiuk B, Moss A, Najdawi F, Plung L, Rioux JD, Rosen MJ, Torres J, Zulqarnain F, Satsangi J. Syed S, et al. Among authors: heller c. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S39-S54. doi: 10.1093/ibd/izae084. Inflamm Bowel Dis. 2024. PMID: 38778628 Review.
Challenges in IBD Research 2024: Preclinical Human IBD Mechanisms.
Ciorba MA, Konnikova L, Hirota SA, Lucchetta EM, Turner JR, Slavin A, Johnson K, Condray CD, Hong S, Cressall BK, Pizarro TT, Hurtado-Lorenzo A, Heller CA, Moss AC, Swantek JL, Garrett WS. Ciorba MA, et al. Among authors: heller ca. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S5-S18. doi: 10.1093/ibd/izae081. Inflamm Bowel Dis. 2024. PMID: 38778627 Review.
Overview to Challenges in IBD 2024-2029.
Heller C, Moss AC, Rubin DT. Heller C, et al. Inflamm Bowel Dis. 2024 May 23;30(Supplement_2):S1-S4. doi: 10.1093/ibd/izae092. Inflamm Bowel Dis. 2024. PMID: 38778626 Review.
474 results